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12 DMRF Partners with Expert Clinicians to Update Dystonia Definition and Classification 16 Interview with Dystonia Expert Stanley Fahn, MD MAGAZINE OF THE DYSTONIA MEDICAL RESEARCH FOUNDATION | WINTER 2013 | VOL. 36 • NO. 3 Dystonia Dialogue Join the global effort to find a cure. resear c h s u pport awa r eness hop e 18 Q&A about Deep Brain Stimulation

WINTER 2013 VOL. 36 • NO. 3 Dysto MAGAZINE OF … · DystoMAGAZINE OF THE DYSTONIA MEDICAL RESEARCH ... WINTER 2013 | VOL. 36 • NO. 3 Join the global effort to ... audience members

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12 DMRF Partners with Expert Clinicians to Update Dystonia Definition and Classification

16 Interview with Dystonia Expert Stanley Fahn, MD

MAGAZINE OF THE DYSTONIA MEDICAL RESEARCH FOUNDATION | WINTER 2013 | VOL. 36 • NO. 3

Dystonia DialogueJoin the global effort to find a cure.

researchsupport

awa r enesshope

18 Q&A about Deep Brain Stimulation

Inside This Issue4 DMRF Announces “DIY” Dystonia Awareness

Contest WinnersFind Out Who Submitted the Most Creative Awareness Idea

12 What is Dystonia? DMRF Partners with Expert Clinicians to Update Dystonia Definition and Classification

18 Questions & Answers: Deep Brain Stimulation Get the Latest Information on This Treatment for Dystonia

20 Meet Our Volunteer Leaders Support Group Leaders and Online Moderators are Lifelines to the Dystonia Community

23 Personal ProfileMeet Susan Zimmerman

What is Dystonia?Dystonia is a disorder that affects the nervous system. Improper signaling fromthe brain causes muscles to contract and twist involuntarily. Dystonia can affect a single body area or multiple muscle groups. There are several forms of dystonia,and dozens of diseases and conditions include dystonia as a significant symptom.For more information visit: http://www.dystonia-foundation.org

On the Cover:The Dystonia Medical Research Foundation (DMRF) is aleader in dystonia research, collaborating with partnersaround the world toward improved treatments and a cure.The DMRF seeks to support not just individual projects,but to stimulate the entire field. For nearly 40 years, theDMRF has expanded science’s understanding of dystoniaby engaging the most knowledgeable and talented researchers. The DMRF leaves no stone unturned thatmay accelerate our efforts to provide relief for affectedindividuals and families.

Dystonia research has progressed to the extent that even the medical languageused to describe dystonia needed an update. Read about the DMRF’s role in drafting a revised dystonia definition and classification system—and what this development means for patients—on page 12.

Partial support of the Dystonia Dialogue is provided by educational grants from Allergan, Inc.and The Medtronic Foundation.

The Dystonia Dialogue is the magazine of the Dystonia Medical Research Foundation(DMRF). It is published three times a year toprovide information to individuals affected bydystonia, family members, and supporters ofthe DMRF.

The Dystonia Medical Research Foundation(DMRF) is a non-profit, 501c(3) organizationfounded in 1976. The mission is to advanceresearch for more effective treatments and a cure, to promote awareness and education,and to support the well being of affected individuals and families.

Dystonia Medical Research FoundationOne East Wacker Drive • Suite 2810 Chicago, Illinois 60601-1905Phone: 312 755 0198 • 800 377 3978Email: [email protected]: www.dystonia-foundation.org

The Dystonia Dialogue reports on developmentsin dystonia research and treatments but does notendorse or recommend any of the therapeuticsdiscussed. Individuals are urged to consult aphysician with questions and concerns abouttheir symptoms and care.

StaffJanet L. HieshetterExecutive Director

Kathleen BehnerDirector of Operations

Debbie DurrerDirector of Development

Jessica FeeleyEditor and Special Projects

Julie MackAdministrative Coordinator

Martha MurphyBrain Bank Liaison

Emma PintoDevelopment Associate

Jody RooseveltScience and Technology Manager

Jan Teller, MA, PhDChief Scientific Officer

Printed in the USA.© Dystonia Medical Research Foundation

DYSTONIA DIALOGUE 3

Foundation UpdateDear Friends,

Every day we are amazed and humbled by the members of our DMRF family. It may be asmall comfort but, when you’re diagnosed with dystonia, you find yourself in good company.The individuals and families who support the DMRF continually inspire us with their resilience and generosity.

We wish to take a moment to applaud the DMRF’s support group leaders and online forummoderators. This summer, the DMRF welcomed volunteer leaders to a Leadership Conferencein Chicago, Illinois over the weekend of August 2–4. The purpose of the meeting was to providethese dedicated volunteers with the resources they need to serve their members and to seekfeedback on how the DMRF can best support them in their essential roles as liaisons to affectedindividuals and families. The meeting was enormously productive, generating wonderful newideas that the DMRF is acting upon in the remainder of this year and into the next. You canread more about the Leadership Conference on page 5.

The DMRF’s volunteer leaders are motivated to support others by their own stories. Withoutexception, our support group leaders and online forum moderators have a personal connectionto dystonia: either they or a loved one are affected. Very often, their goal is to make sure otherfamilies do not face the setbacks and heartbreaks they have experienced at the hands of the disorder. Support leaders provide a lifeline to the newly diagnosed. They offer those who areliving in isolation a sense of belonging and an invitation to join the fight against dystonia.Our volunteer leaders are among the dystonia community’s heroes, as vital as the doctors who provide care and the researchers working toward a cure.

If there is a DMRF support group in your area, we encourage you to attend a meeting. If you would like to start a support group in your region, the DMRF is happy to discuss the possibilities with you. If you have internet access to a DMRF online support forum, we inviteyou to join. Please take advantage of the wonderful resources that our volunteer leaders canoffer. You can find contact information and links for all DMRF support resources online atwww.dystonia-foundation.org

We remain grateful to all of you for your support. Thank you for being a part of the DMRF.

Sincerely,

ART KESSLERPRESIDENT

JANET L.HIESHETTEREXECUTIVE DIRECTOR

Art Kessler Janet L. HieshetterPresident Executive Director

4 WINTER 2013

The DMRF is proud to announce the winners of the “Do It Yourself”Dystonia Awareness Contest, whichwas launched in June. The DMRF received so many creative, wonderfulentries that the voting was very difficult.Thank you to everyone who partici-pated and shared the fun and creativeways you are promoting dystoniaawareness in your communities. Every effort makes a difference!

Congratulations to our winners:

Most Creative Dystonia Awareness Idea:Shayla AnthonyPittsburgh, PAShayla named her wireless hot spot “Dystonia Awareness”to reach people looking for free wi-fi and created hand-made vinyl dystonia awareness decals for her vehicle and laptop. Shayla is a co-leader of the WesternPennsylvania Dystonia Support Group and has two children who are diagnosed with dystonia.

Random Drawing for DMRF Awareness Merchandise:Auriana Vail, Ashland, VirginiaAuriana Vail of Ashland, Virginia is a recent high school graduate who beganexperiencing symptoms in her hands in

fourth grade. She was diagnosed with dystonia in theeighth grade, and within two years was unable to walk.A year ago, Auriana had deep brain stimulation, whichdramatically improved her ability to walk and be active.She was able to walk across the stage at her high schoolgraduation and no longer depends on a wheelchair.

DMRF Announces “DIY” Dystonia Awareness Contest WinnersShayla Anthony Recognized for Most Creative Awareness Idea

Shayla created hand-made dystoniaawareness decals for her vehicle andlaptop, which she uses to spreadthe word wherever she goes.

Shayla Anthony is a dystonia awareness all-star.

Dystonia 101Dystonia can be a confusing disorder to understand.It never hurts to brush up on the basics:

• Dystonia is a neurological movement disorder. It affects the ability to control voluntary musclemovements.

• Dystonia does not affect smooth muscles, such as the heart.

• There are many forms of dystonia. It can affect asingle body area or multiple muscle groups.

• Each case of dystonia is classified by the clinicalfeatures and what is known about the cause.

• In cases of isolated dystonia, dystonia is the onlymovement symptom present, with the exception of tremor.

• In cases of combined dystonia, dystonia occurs incombination with other movement symptoms suchas myoclonus or parkinsonism.

• Inherited dystonias are those with a proven geneticorigin, for example mutations in the DYT-designatedgenes such as DYT1, DYT5, or DYT11.

• Acquired dystonias are due to a known specific lifeevent or series of events, for example birth injury,drug exposure, brain injury, infection, and other factors.

• People with acquired dystonia often have other neurological symptoms, some of which may affectmore than just muscle movement.

• Many cases of dystonia are idiopathic, meaning thatthere is no identifiable cause. Many of the focal dys-tonias that occur in adulthood fall under this category.

• Treatment options include oral medications, botulinumneurotoxin injections, surgery, and less invasivemethods such as physical or occupational therapyand relaxation practices.

• Stress does not cause dystonia, but symptoms may worsen in stressful situations.

For more information, visit http://www.dystonia-foundation.org

DYSTONIA DIALOGUE 5

Volunteer Leaders Gather in Chicago for 2013 Leadership Conference

On August 2–4, 2013 the DMRF hosted aLeadership Conference in Chicago, Illinoisfor support group leaders and online forummoderators. Participants heard from a varietyof speakers and participated in group discus-sions on the many facets of serving as a volunteer support leader. It was a wonderful,productive weekend, and the DMRF is privileged to work with such an impressivenetwork of volunteers. The Planning Com-mittee, chaired by Leadership ChairpersonPaula Schneider, did an outstanding job ofbuilding the program: Sue Baron, GinnyBryan, Denise Gaskell, Denise Gibson,Martha Murphy, and Len Nachbar.

Leadership Chair Paula Schneider served as Mistress of Ceremonies throughout the weekend.Dee Linde served as our volunteer photographer. Special thanks to all of our outstanding speakers:

DMRF PresidentArt Kessler thankedparticipants for theirvital role in provid-ing support to fellowindividuals andfamilies impactedby dystonia.

From L to R, Pat Croll, Denise Gaskell, and Whitney Jory shared the highlights and challengesof being volunteer leaders.

Stay in Touch Get the latest information from the DMRF by signing up for monthly updates at http://ow.ly/hVnpw

or visiting www.dystonia-foundation.org. Or follow us on Twitter and Facebook.

• Ginny Bryan, 20/30 Dystonia Group• Pat Croll, Central Oregon Dystonia Support Group• Debbie Durrer, Director of Development• Alyssa Dver, Confidence Consultant, Author, Dystonia Parent

• Margie Frazier, PhD, LISW-S, Executive Director, Batten Disease Support and Research Association

• Denise Gaskell, Cervical Dystonia Support Forum• Janet Hieshetter, Executive Director• Whitney Jory, San Francisco Dystonia Support Group• Art Kessler, Board of Directors, President• Jan Teller, MA, PhD, Chief Scientific Officer

• Dee Linde, Portland, Oregon & Southwest WashingtonDystonia Support Group and DBSforDystonia OnlineBulletin Board

• Billy McLaughlin, Board of Directors, Awareness Ambassador, Minnesota Dystonia Support Group

• Len Nachbar, Central Jersey Dystonia Support & Action Group

• Marcie Povitsky, 20/30 Dystonia Group• Karen Ross, PhD, Board of Directors, Vice Presidentof Support

• Rebecca Sharp, Dothan, Alabama Dystonia Support Group

The discussions that took place at the meeting generated a wealth of recommendations for new resources and programsto support volunteer leaders. The DMRF is working to implement these recommendations during the remainder ofthe year and into 2014.

6 WINTER 2013

Billy McLaughlin to Live Stream Benefit ConcertWhen Emmy award-winning guitarist and composer Billy McLaughlin takesthe stage January 24, 2014 in San Diego, audience members who can’t makeit to the concert hall will be invited to enjoy the show through a live-stream viathe DMRF website. “Streaming for Dystonia – Billy McLaughlin in Concert,”is the second of Billy’s benefits to be made available to fans and supportersonline thanks to the partnership San Diego State University, the site of theperformance. Proceeds will benefit dystonia research and DMRF programs.

Billy McLaughlin is recognized internationally as an innovative world-classacoustic guitarist, composer, and producer. Diagnosed with focal dystonia, he launched a remarkable comeback as a left-handed performer, which wasdocumented in the film Changing Keys - Billy McLaughlin and the Mysteries of Dystonia (2008). He is a five-time Minnesota Music Award winner with 12 CD releases and Billboard Top-Ten Chart history. His stage experience isextensive, including 15 years of national touring as well as stops in Japan andEurope. Among his many honors, Billy was recently awarded an Emmy by the National Academy of Television Arts and Sciences Pacific Southwest Chapter in the category Musical Composition/Arrangement for his performance of "Billy McLaughlin: Starry Night with Orchestra Nova," which first appeared on KPBS San Diego and is being televised on public broadcasting stations nationwide including Twin Cities Public Television. Billy co-leads the Minnesota Dystonia Support Group, serves as the DMRF Awareness Ambassador, and is an ex officio member of the Board of Directors.

“Streaming for Dystonia – Billy McLaughlin in Concert” is a live, two-set solo guitar performance to take place Friday, January 24 atSmith Recital Hall San Diego State University at 7:30 pm. Tickets are $25 to attend, and $10 to view the first set by live stream. Staytuned for more information by signing up for DMRF email alerts at http://ow.ly/hVnpw or visiting www.dystonia-foundation.org

Fans can watch Billy McLaughlin’s upcoming DMRF benefit concert in-house or online. Photo by Ryan Taylor.

Volunteers Needed for ResearchVolunteers with focal hand dystonia are needed for a study at the National Institutes of Health (NIH) ClinicalCenter in Bethesda, Maryland. The study will use a technique called transcranial magnetic stimulation toexamine the brain circuits involved in focal hand dystonia, also known as writer’s cramp.

Volunteers must be between the ages of 18-60 and right-handed, among other parameters. Compensationfor time and travel is available for approved candidates. To learn if you may be eligible or for more information,visit: http://tinyurl.com/o2ogpja. Or contact Patient Recruitment and Public Liaison Office at 800-411-1222or [email protected]

Questions about Research?Do you have a question about dystonia research that you would like the DMRF to address in the DystoniaDialogue? Email your research questions to [email protected]

CANDID KIDS Young People with Dystonia

When nine-year-old Malachy Connors grows up,he wants to be a scientist and find a cure fordystonia. In the meantime, he and his eight-year-old brother, Abel, take every opportunity to promote awareness. The boys’ mother, TristaConnors, and their four-year-old sister, Alice,were recently diagnosed. “Dystonia has a hugeeffect on our family,” explains Trista, “and wehave discussed it openly with all of our children.The boys want a cure because they want theirmom and sister to not suffer. Malachy will go up to people in the store who are staring orwhispering, and tell them we are not ashamed.He will hand a stranger a DMRF tri-fold card andsay if they have questions there is a website on the card.”

Recently, Malachy and Abel each read NeverLook Down by Alyssa Dver and Zachary Weinsteinout loud to their classmates at school and answered questions about dystonia. Their pre-sentations inspired more children to share theirexperiences with illnesses in their families. Then the boys approached the school librarianfor permission to create special section in the library about illnesses. She loved the idea andnow the library has a special collection of bookson disorders and diseases.

“I can’t deny I am extremely proud of them!”says Trista. “I couldn’t imagine anyone better to explain what it means to live with dystonia orwith someone who is affected by dystonia. They

care so much about everyone, not just their family, and work hard to spread the word.”

Trista began having symptoms of dystonia at age three, but was not diagnosed until she was27 years old. Alice was diagnosed shortly afterTrista, when Alice was just three years old.

Malachy and Abel say they want people to know about dystonia so that scientists can do more search for better treatments and eventually a cure.

Never Look Down was created to inform and empower children with dystonia. You can preview the book at www.dystonia-foundation.org. Families may be eligible to receive a copy at nocharge. To request a copy, contact the DMRF at [email protected] or 312-755-0198.

Siblings Educate Schoolmates on Dystonia

Brothers Malachy and Abel are crusaders for dystoniaawareness on behalf of their sister and mom.

7

8 WINTER 2013

Expectations vs. RealityBy Lisa Zimmermann

As a teen, I had my future mapped out: after high school, I would attend a four year college and earn a degree in Education. I would live in an apartment on my own. I would meet my future husband in a class or two, but we wouldnot start dating until later. I would teach for a few years, then marry by 27 (the age my mom was when she married my dad). I would be a globetrotter with a couple of kids.

Then I grew up, and realized that I cannot plan my life.

No one plans to abruptly and urgently withdraw from college.No one plans on sinking deeper and deeper into the dark abyss.No one plans to earn a Master’s degree and not work in her intended field.No one plans to still live with mom and dad in her mid to late twenties.No one plans on having a neurological disorder.

When I forecasted my future I never could have predicted where I am today.

Since attending my first DMRF symposium in Chicago, I have found my voice. I am eager to educate those whohave not heard this condition as well as advocate for those with dystonia. I always wanted to fight for a cause, andnow I am. I have more friends now than I ever have. Visiting these friends, especially in locations I have not been,gives me a wonderful excuse to travel and explore. My dystonia friends are my second family; they understand me best.

I am not one of those people who say they have become stronger after a medical hiccup. Yes, I thought “why me?”Yes, I became depressed, not knowing what was wrong with me. Yes, I struggled to comprehend that my life would be different. After allowing time to pass, plus a good mixture of tears, smiles, screams, and worry, I am now stronger.Having a positive outlook, as cliché as it sounds, really did, and continues to, help motivate me.

One day I will move out from my childhood home, but that day has not come yet. One day I will be hired for a job that does not feel like work.One day I will have my own children: albeit a dog or cat, or both.One day I will meet my future husband.

Reality is, I have learned from having dystonia, taking life one day at a time with an extra helping of patience. Life is truly what you make of it.

Lisa Zimmermann was diagnosed with dystonia at 21 years old, after symptoms surfaced when she was 19. Testing recently confirmed that Lisa has a rare form of dystonia called rapid-onset dystonia-parkinsonism. She attended her first the DMRF symposium in 2011 and has since become a loyal attendee of DMRF events. Lisa is a legislative advocate andhas participated in Dystonia Advocacy Day in Washington, DC. She has her Master’s degree in Library and InformationScience. She loves to read, to travel, Batman, and antiques.

Lisa Zimmermann attended herfirst DMRF symposium in 2011.

DYSTONIA DIALOGUE 9

For more than seven yearsI have been emailing witha young Romanian womanwho has adult onset gen-eralized dystonia. SabinaGall was bedridden for several years. The Romanian NationalHealth Plan does notcover botulinum neuro-toxin injections or deep

brain stimulation (DBS) for dystonia patients, so mostgo without treatment. After Sabina was diagnosed, doctors told her there was nothing they could do for her.Being the fighter that she is, Sabina did her own researchand learned about DBS. She wrote to several hospitalshere in the United States as well as doctors in Germanyand other parts of Europe, explaining her circumstances.A doctor in Germany agreed to help her and, after aconsultation, said she was a candidate for DBS. Sabina’sfamily sold their house, and her village held fundraisers soshe could afford to go to Germany for the surgery. Sabinahad DBS in 2007, and it has helped her tremendously.

Sabina’s motto is “pay it forward.” Shortly after her recovery, Sabina and her mother, Adriana, started a non-profit organization in Romania called Asociaţia“Children’s Joy” to help spread dystonia awareness andto help others who have dystonia. I got to experiencefirsthand these two amazing women in action. This July,I had the honor and privilege of being a guest speaker atthe First National Conference on Dystonia in Romania!About 50 people from across Romania attended the conference. I spent a little over three weeks with Sabinaand her family. Their village of Sighisoara, located inCentral Romania, is one of the few inhabited fortifiedtowns in the world and is a perfectly preserved medievaltown. It has been inhabited since the 6th century BC.Through their organization, Sabina and Adriana hope to provide educational resources for doctors and supportfor patients as well as to convince the National HealthMinistry to implement a diagnostic code for dystonia

so people can get the treatment they need. Sabina requested educational materials from the DMRF andtranslated them into Romanian. She worked with a doctor to translate some of the medically oriented articles from the Dystonia Dialogue in hopes of publishing their own dystonia newsletter.

Sabina introduced me to another young Romanianwoman, Catalina Crainic, who has cervical dystonia. I was lucky enough to also visit Catalina’s village ofTimisoara in western Romania which has been inhabitedsince 200 BC. Catalina, her husband Marius, and theiryoung daughter Carmina are very involved with theAsociaţia “Children’s Joy,” holding workshops, meetingwith doctors, and spreading awareness in Timisoara.Catalina travels to Hungary to get botulinum neurotoxininjections, which she must pay for herself.

I was so impressed with the friendliness of the people I met and overwhelmed by their kindness, generosity,and compassion for each other. I will never forget Sabinaand Adriana Gall and all of my new friends in Romania.I never thought dystonia would make me a world traveler.I never thought I would find myself standing in beautiful,medieval villages. I thought being diagnosed with dystoniameant the end of my life—little did I know it was justthe beginning!

Dee Linde, MA was an Aerographer's Mate in the Navyfrom 1978-1982 and worked as a licensed Marriage andFamily Therapist for 15 years. Dee was diagnosed with tardive dystonia in 1997. In 2000 she had successful deepbrain stimulation (DBS) surgery. In 2002 Dee founded the DBSforDystonia Bulletin Board which offers onlinesupport and information to those on the DBS journey. Deealso leads the Portland, Oregon & Southwest WashingtonDystonia Support Group. Dee is an active legislative advocate and frequent speaker at DMRF events—includingthe recent 2013 Leadership Conference—and past guestauthor in the Dystonia Dialogue. She now serves on theDystonia Dialogue Editorial Board.

From L to R, Sabina Gall,Dee Linde, Catalina Crainic,and Carmina Crainic wereamong the attendees of thefirst-ever National Conferenceon Dystonia in Romania.

How I Spent my Summer Vacation: Going Global with Dystonia AwarenessBy Dee Linde

10 WINTER 2013

In her latest race to supportthe DMRF, Carrie Siu-Buttraised $1,700 by competing in the San Diego Rock n’ RollMarathon in June. Carrie is diagnosed with dystonia andwas able to return to runningfollowing deep brain stimula-tion surgery and lengthy training.She is planning to run the U.S.Half Marathon in San Francisco

on November 3, 2013 before retiring from distancerunning after an amazing track record of supportingthe DMRF by running for those who cannot!

Many thanks to Karen Flanagan for hosting her 2nd

Dystance4Dystonia Cleveland Zoo Walk on October 5.This very successful event attracted a crowd of atten-

dees, raisingfunds for dystonia research and promoting aware-ness. Karen is diagnosed withrapid-onset dystonia parkin-

sonism and has since made it her mission to be anadvocate for the greater dystonia community.

Over 120 individuals took to the greens on August 5 in Hastings, Minnesota to raise visibility of dystoniaand funds for research toward a cure. The 5th AnnualMinnesota Dystonia Golf Classic was a day of enter-tainment, competition, but also awareness. OrganizerWayne Erickson is affected by blepharospasm, a formof dystonia that affects the eyelid muscles and causes uncontrollable blinking. The golf tournamentand dinner raised over $10,000 for the DMRF. Manythanks to Wayne for his efforts and congratulations on a wonderful, successful event!

A group of supporters led by Ben Humphrey, son ofDMRF Board Member Donna Driscoll, hosted a nolimit Texas Holdem Poker Tournament in Columbus,Minnesota on September 7. This unique first timeevent attracted 50 supporters and promoted much-needed awareness, raising $5,000.

It was a battle of the bean bags! The first-everToss4Dystonia CornholeTournament took placeSeptember 28 inRochester, New York. Jim and Cassie Metherellhosted the event in honorof their son Caleb who

has dystonia. Families gathered in Frontier Field forthis very original event in support of research toward a cure and greater awareness.

Melissa Phelpsorganized the Dystance4DystoniaCincinnati Zoo Walkthat took place onSeptember 14 inhonor of her two

young daughters, Olivia and Madison. Melissa’s children are diagnosed with a rare cause of dystoniacalled tyrosine hydroxylase deficiency. Over 250 people attended this enormously successful first timeevent. Congratulations to Melissa and her supporters!

Martha Murphy and Bette George represented the Dystonia Support and Advocacy Group of San DiegoCounty at the “Summer Healthcare Saturday” healthfair on June 15. They distributed awareness materials and answered questions from attendees.

PEOPLE ON THE MOVEThe DMRF is deeply grateful for our grassroots volunteers who work year round to promote dystonia awareness andfundraise for medical research. Every effort and every volunteer makes a difference! We appreciate your support.

Check the DMRF website for upcoming events at www.dystonia-foundation.org/events

DYSTONIA DIALOGUE 11

The Farber family hosted the 8th Annual Chicago Basket Bash in October in honor of the lateShari Farber-Tritt, whose experi-ence with dystonia was featured in the documentary, Twisted. Over a hundred guests attended to win prizes and socialize, raising urgently needed funds for medicalresearch and promoting greaterdystonia awareness.

In June, Jennifer Stark-Baurley,who is diagnosed with dystonia,partnered with Program DirectorTony Stidham of the Scott FamilyYMCA to host the first-everDogs4Dystonia Dog Walk in Scottsburg, Indiana. The DMRF is grateful for their efforts to promote much-needed awarenessin their community.

Marta Stoeckel-Rogers ran theTwin Cities Marathon on October 6in support of the DMRF. She wasdiagnosed with dystonia in 1998as a high school student. Whenshe discovered that some of herdystonia symptoms disappearwhile running, she became verymotivated to continue training.This was her first full marathon,and the DMRF is extremely gratefulto Marta for running her inauguralmarathon in support of dystonia research and programs.

Marissa Mortensen ran theChicago Marathon on October 13in honor of her boyfriend Drewwho was diagnosed with cervicaldystonia in 2011 while the twowere attending graduate physicaltherapy program. This was Marissa’sfirst full marathon. Many thanks to Marissa for her support andcongratulations on this achievement!

Upcoming EventsJoin us for the following

upcoming events!

November 3, 2013Carrie Siu-Butt at U.S.

Half MarathonSan Francisco, CA

November 3, 2013Team Dystance4Dystonia

at NYC MarathonNew York, NY

November 16, 2013Dystonia Community Education Forum

Boston, MA

December 20, 201310th Annual Help Find a Cure 4 Dystonia Benefit

Hazleton, PA

January 24, 2014“Streaming for Dystonia”Billy McLaughlin in Concert

San Diego, CA - Plus live webcast

April 8–9, 2014Dystonia Advocacy Day

Washington, DC

Visit http://www.dystonia-

foundation.org/events for a

complete list of events and

support group meetings as

dates are confirmed.

2013 was the most successful Dogs4Dystonia Virtual Walk ever. Forty-four dogs and one chicken raised $15,000! The top two finishers, Nicoowned by Carol McGrath (and honoring Treacy Henry) and Daisy owned by Bryan Baron, each raised $1,900! All proceeds support the mission of the DMRF. Congratulations to all of our dogs—and their owners on this amazing campaign!

12 WINTER 2013

In 1984, Ronald Reagan was President. The Cosby Show premieredon television, and teenage girls everywhere filled their closets withlace and spandex. The year also marksa milestone in dystonia research: theDMRF convened a committee ofmovement disorder experts to providethe medical community with a defi-nition of dystonia and classificationsystem for the many forms. Until the late 1970s, dystonia was widelyunrecognized or misunderstood as an obscure psychiatric phenomenon.But a small group of neurologists insisted dystonia was being mis-characterized and patients were not receiving proper care. The 1984 definition and classification secureddystonia’s designation as a neurologicalmovement disorder and quickly became the acceptedclinical description for several decades to come.

Since that time, researchers have learned so much aboutdystonia that even the language used to discuss the disorderneeded an update. In 2010 Alberto Albanese, MD ofNational Neurological Institute, Carlo Besta (Italy) beganencouraging members of the movement disorders community that the time was right to act, spearheadingthe effort by asking the DMRF to consider supporting a meeting of experts to review the definition and classification devised in 1984.

The DMRF provided initial support and helped form a committee of experts to address this matter, eventuallypartnering with the Dystonia Coalition and the EuropeanDystonia Cooperation in Science and Technology(COST) Action. After preliminary discussions, theprocess began in 2011 and the committee met

opportunistically several times inconjunction with internationalmeetings. A consensus paper waspublished this year in MovementDisorders.1 The paper describes the conclusions of an internationalpanel of investigators with years ofexperience in the field. The updateddefinition and classification describedystonia more accurately and provide an improved framework for the medical community toguide diagnosis, diagnostic testing,treatment, and research.

What does this mean for individualsand families in the dystonia com-munity? The consensus paper integrates some of the latest dystoniaresearch and may influence how

your doctor describes dystonia. Some of the terminologyused in future DMRF publications will change to moreaccurately reflect what dystonia is and the various formsit can take.

Defining Dystonia: A Moving TargetEver since the first description of dystonia in the late19th century, there has been ongoing debate about theclassification and descriptions of the various forms. The definition and classification will continue to evolve as researchers learn more about dystonia.

Dystonia represents a complex group of syndromes. The term dystonia may indicate a specific kind of involuntary movement—i.e. a symptom—or any numberof neurological disorders in which dystonias occur.

It is important to have a classification system that guidesdiagnosis and also identifies dystonias by the cause, if

What is Dystonia?DMRF Partners with Expert Clinicians to Update Dystonia Definition and Classification

Article at a Glance• The definition and classification of

dystonia will continue to evolve asthe research progresses.

• A consensus paper drafted by experts simplifies the classificationby grouping dystonias by clinicalfeatures and by cause.

• Terms like “primary”and“secondary”dystonias have caused confusion,and are being replaced by more accurate descriptions.

• Vague categories like “early onset”and “late onset” are replaced bymore specific age designations.

1Albanese, A., Bhatia, K., Bressman, S. B., DeLong, M. R., Fahn, S., Fung, V. S.C., Hallett, M., Jankovic, J., Jinnah, H. A., Klein, C., Lang, A. E., Mink, J. W., and Teller, J. K. (2013), Phenomenology and classification of dystonia: A consensus update. Mov. Disord., 28: 863–873. doi: 10.1002/mds.25475

known, to guide future research andtreatment. This makes it challengingto develop a single system that servesboth purposes.

Instead of classifying dystonia alongthree major points of reference (cause,age at onset, body distribution) theconsensus paper proposes a simplifiedscheme that classifies dystonia alongjust two: clinical features and cause.

Clinical Features: What are theSigns & Symptoms?Clinical features are the signs and symptoms of dystonia. These include age at onset, bodydistribution, certain qualities aboutthe symptoms, the presence of othermovement disorders, and other neurological features. Doctors usethese factors to guide diagnosis and treatment.

Age at onset for dystonia has traditionally been categorized as late onset (adult onset) and earlyonset (childhood onset). In order to keep the classification more consistent with stages of humandevelopment, the following categories seem more helpful:• Infancy (birth to 2 years)• Childhood (3-12 years)• Adolescence (13-20 years)• Early adulthood (21-40 years)• Late adulthood (40+ years)

Definitions for describing body distribution remain largely unchangedin the new classification:• Focal dystonia: Only one body region is affected. Examples includeblepharospasm, oromandibulardystonia, cervical dystonia, laryn-geal dystonia/spasmodic dysphonia,and writer’s cramp.

Continued on page 14

Dystonia is characterized

by persistent or intermittent

muscle contractions causing

abnormal, often repetitive,

movements, postures, or

both. The movements are

usually patterned and twist-

ing, and may resemble a

tremor. Dystonia is often

initiated or worsened by

voluntary movements, and

symptoms may ‘overflow’

into adjacent muscles.

Dystonia is classified by:

1. clinical characteristics

(including age of onset, body

distribution, nature of the

symptoms, and associated

features such as additional

movement disorders or

neurological symptoms) and

2. Cause (which includes

changes or damage to

the nervous system and

inheritance).

~ Excerpt from Phenomenologyand Classification of Dystonia: a Consensus Update (2013)

DYSTONIA DIALOGUE 13

BlepharospasmAffects the eyelids, causingthen to blink uncontrollablyor remain closed.

Cervical Dystonia/Spasmodic TorticollisAffects neck and shouldermuscles, turning the headto the side or forcing thehead back or forward. Atremor may be present.

Generalized DystoniaAffects many parts of the body simultaneously.Causes cramping and twisting in the feet, limbs, and torso.

Spasmodic Dysphonia/Laryngeal DystoniaAffects muscles of thevocal cords, making it

difficult to speak.

Oromandibular DystoniaAffects the face, jaw, and/ortongue. Causes grimacing,

tongue protrusion, jaw closure, or jaw opening.

Hand Dystonia/Writer’s Cramp

Causes the fingers to curland the hand and forearmto cramp. Occurs when a

person attempts to use thehand for writing, playing a

musical instrument, orother activities.

Dystonia may occur in isolation or in combination with additional movement disorder symptoms such as myoclonus or parkinsonism. The diagram above describes several common manifestations of dystonia.

Continued from page 13• Segmental dystonia: Two or more adjacent body regions are affected. For example, cranial dystonia: blepharospasm plus lower face, jaw, and/or tongue involvement.

• Multifocal dystonia: Two non-adjacent body areas or more (adjacent or not) body regions affected. Forexample, cranial dystonia plus writer’s cramp.

• Generalized dystonia: The trunk and at least two other body areas affected. Generalized forms with leg involvement are distinguished from those without leg involvement.

• Hemidystonia: More body regions restricted to oneside of the body are affected.

Daily changes of the symptoms—also referred to as temporal pattern—also guide diagnosis and treatment.The disease course can be static (meaning the symptomsare stable) or progressive (meaning the symptoms changeor spread over time). The variability of symptoms maybe grouped into four patterns:• Persistent: Dystonia that is fairly consistent throughoutthe day.

• Action-specific: Dystonia that occurs only during aparticular activity or task.

• Diurnal fluctuations: Dystonia that fluctuates duringthe day, often in recognizable patterns in relation tosleep and waking.

• Paroxysmal: Sudden episodes of dystonia usually induced by a trigger.

Dystonia can occur in isolation or in combination withother movement disorders. The term “primary” was introduced to define cases in which dystonia is the onlypresent neurological disorder (with or without dystonictremor). Cases previously referred to as “primary” or“pure” dystonia are now more accurately described asisolated dystonia, where dystonia is the only movementsymptom with the exception of tremor.

Cases previously identified as “dystonia-plus” or “heredodegenerative” are now more precisely classified as combined dystonia: in these cases dystonia is combinedwith other movement symptoms such as myoclonus or parkinsonism.

The presence or absence of other neurological or medicalconditions remains a critical component for classifyingdystonia, for both clinical and research purposes; certain forms of dystonia are closely associated withother clinical characteristics that should be considered in the treatment process.

Cause: What Do We Know About Why Symptoms Occurred?Characterizing dystonia by what is known about thecause—also called etiology—is ever-evolving as researcherscontinue to explore the biological mechanisms that leadto symptoms. Knowing the causes of dystonia will guidemore specific treatment and possibly prevention.

The consensus paper recommends considering dystonias interms of inherited or acquired forms. Inherited dystoniasare those with a proven genetic origin, for example mutations in the DYT-designated genes such as DYT1,DYT5, or DYT11. Acquired dystonias are due to aknown specific life event or series of events, for examplebirth injury, drug exposure, brain injury, infection, andother factors. Psychogenic or functional dystonias areconsidered acquired dystonias, though this is an areathat remains in debate even among experts.

However, there are many cases of dystonia that are idiopathic, meaning there is no identifiable cause. Thisincludes cases with or without a family history. There arefamilies with multiple members who are affected by dystonia—suggesting an obvious genetic component—but no specific gene is known to be the culprit. Many of the focal dystonias that occur in adulthood fall underthis category. As more genes are identified, certain idiopathic forms may be reclassified as inherited.

What’s in a Name?The updated clinical definition and classification of dystonia are significant because they demonstrate howfar the research has progressed over the last 30 years. The field of dystonia has matured to the extent that it outgrew even the language used to discuss it. The authors of the consensus paper offer a simplified, more accurate system for doctors to diagnose and treatdystonia, and for investigators to guide further research.The DMRF is proud to have played a role in this important research milestone.

14 WINTER 2013

Updated Classification of Dystonia The updated classification system guides diagnosis and

treatment for the many manifestations of dystonia. It provides

doctors with a check list of characteristics that, when applied

to an individual, reveal a detailed description of that

person’s diagnosis, to the best that the

research can now support.

AXIS 1: CLINICAL CHARACTERISTICSWhat are the signs and symptoms?Clinical characteristics of dystoniaWhat is the age at onset?• Infancy • Childhood • Adolescence • Early adulthood • Late adulthood

How are symptoms distributed on the body?• Focal • Segmental • Multifocal • Generalized• Hemidystonia

What is the temporal pattern?How have the symptoms changed over time?• Static• ProgressiveHow variable are the symptoms?• Persistent• Action-specific• Diurnal• Paroxysmal

Associated featuresIs the dystonia isolated or combined with anothermovement disorder?• Isolated dystonia• Combined dystonia

Are there other neurologic or systemic symptoms?• List of co-existing neurological symptoms

DYSTONIA D IALOGUE 15

AXIS 2: ETIOLOGYWhat do we know about the cause?Is there observable damage to the nervous system?• Is there evidence of degeneration in the brain?• Is there evidence of structural lesions in the brain?

Is the dystonia inherited or acquired?If inherited, what is the inheritance pattern?• Autosomal dominant• Autosomal recessive• X-linked recessive• Mitochondrial

If acquired, how was the dystonia acquired?• Perinatal brain injury• Infection• Drug exposure• Toxic exposure • Vascular (e.g. stroke)• Neoplastic (e.g. tumor)• Brain injury• Psychogenic

If the dystonia is idiopathic, are other family members affected?• Sporadic (no family history)• Familial (positive family history)

Help researchers continue to study dystonia by joining the Global Dystonia Registry. Learn more

at https://globaldystoniaregistry.org/

16 WINTER 2 0 1 3

Expanding the Definition of Dystonia & Progress in the FieldInterview with Dystonia Expert Stanley Fahn, MD

Stanley Fahn, MD was among the earliest pioneers of dystonia

research and patient care, and is responsible for training some of

the most influential and accomplished dystonia experts in practice

today. He was a member of the original committee assembled by

the DMRF in 1984 to develop a medical definition of dystonia and

served on the international committee of experts that recently

updated the definition and classification. In a recent interview he

shared his insights on this research milestone and the field of

dystonia in general.

Stanley Fahn, MD has beenone of the most influentialdystonia experts for almost40 years.

DD: From your perspective as researcher and clinicianwho has been publishing work on dystonia since the1970s, what is the significance of the updated dystoniadefinition and classification?

SF: One can look at a new classification and definition as a way of keeping pace with the research going on and having a better understanding of the disease you are investigating. As we learn more about diseases, orspecifically a single disease, there are new nuances thatcome into account. Certainly the classification will haveto be changed as more types of dystonia are discovered.One looks at an update in classification as a “progress report.” Obviously, if we didn’t make any progress, wewouldn’t have to change anything. When we first wrote a definition in 1984, it was essentially a single sentence;now it’s about three sentences.

One of the concerns is that there are doctors out there who don’t know dystonia, and this new modifieddefinition will maybe give them a better handle on itwhen they see a patient with dystonia, to figure out exactly what kind they have and where that patient fits into the classification scheme.

DD: You served on the DMRF’s ad hoc committeethat drafted the previous dystonia definition and classification in 1984. How was the process different this time around?

SF: Even before 1984, the approach had been that one ortwo people would get together and come up with their ownclassification. The original definition and classification—the one in 1984—was promulgated by the DystoniaMedical Research Foundation who wanted to make surewe had a definition everyone could agree upon. And theyput together a team of six investigators in the field whogot together and finalized their definition and classificationin a single day.

This new one was done a little bit differently. Since there are more investigators working on dystonia nowthan there were in 1984, we had to include more people.And one day wasn’t long enough; we realized it wascomplex. We had to meet again. It was a longer, drawnout process—probably took about two years altogether.That said, there was a final product which is much morecomprehensive and complex than from the one-day session in 1984. Eventually a consensus was developed—with the full understanding that it’s not 100% complete.We’ll need to change it again.

DYSTONIA D IALOGUE 17

DD: In your mind, what are some of the most promisingor interesting aspects of dystonia research?

SF: Fortunately, there is a lot of research taking place in dystonia, not only in the basic science and genetics,physiology and animal models, but also treatments.There is no question we need better treatments, so thatshould be a major goal.

Dystonia is one of the more complex diseases not only because of the different genetic forms but becausesymptoms in different parts of the body may have differentresponses to treatment. Let’s say some drug company hasdrug X that they think might work for dystonia. Shouldyou study it in only cervical dystonia, only speech dystonia,only arm dystonia, and so forth? If the drug doesn’t workin that one type, does that mean we give up on it? Theseare complex issues. So these are decisions that will haveto be brought up as each drug comes into the fore forbeing tested.

There is a lot of work to be done, but there is also greatpromise, and that keeps a lot of the scientists interestedin this disease. We do want to see this disease conquered.It looks hopeful but we don’t have the right drugs yet. It’sgoing to be an interesting future for dystonia. It’s all goingto get better with time, there’s no question about that. I’veseen it in my lifetime, how much we’ve come along inmaking progress, and the future is going to be great as well.

DD: What keeps you interested in dystonia and involved with the DMRF?

SF: Dystonia is really a fascinating disease, no questionabout it. It’s mysterious. There is still debate about whatparts of the brain are involved in dystonia—a lot of re-search is going into that. Dystonia is a vital, interestingdisease for young people to get into because there is somuch future research that can be done in this field.

Doctors and basic scientists want to know their work isgoing to help people ultimately. We can see that in thefield of dystonia.

Keeping up-to-date with dystonia is not easy! So much is being done. There is a lot of literature out there toread and to comprehend and to put together so one canunderstand the bigger picture. The formation of the DMRFwas really a key element in enhancing research andbringing people together, encouraging young investigatorsto get into the field, putting together conferences, providingresearch grants, keeping people who have dystonia andtheir families informed about dystonia, encouragingthem to take part in advocacy, getting families to raisefunds and appeal to Congress to give money for NIH[National Institutes of Health] research, and so forth.There is partnership between NIH and the DMRF and the scientists. It’s nice to see all this progress.

I give credit to the DMRF. I want to acknowledge Samand Fran Belzberg who founded it, and Marty Sloate—he and I worked with Sam and Fran initially to encouragethem to start the Foundation. It’s really taken off. It’s beena model foundation for patients.

For the full-length version of this interview, visit www.dystonia-foundation.org/dialogue

Stanley Fahn, MD is the H. Houston Merritt Professor of Neurology and Director Emeritus of the Center forParkinson’s Disease and Other Movement Disorders at Columbia University. He served as a member of the Medicaland Scientific Advisory Council of the Dystonia Medical Research Foundation and is currently a lifetime honorarymember of its Board of Directors. Dr. Fahn founded and directed the first Dystonia Clinical Research Center in theUnited States. He co-organized four international dystoniasymposia from 1975 to 2002. Dr. Fahn has received numeroushonors and delivered many titled lectures at a variety ofuniversities around the world. The Dystonia Medical Research Foundation created the Stanley Fahn Fellowshipin 1998 and the Stanley Fahn Dystonia Award in 2003, a $100,000 grant to an individual who is making outstanding contributions to the understanding and treatment of dystonia.

Dr. Fahn gave a fascinating presentation at the 2013 Board of Directors meeting on how the medical

community has defined dystonia over the years and the role of the DMRF in stimulating research.

View the presentation on the DMRF YouTube channel: http://www.youtube.com/facesofdystonia

Q&A18 WINTER 2 0 1 3

Deep Brain Stimulation

What is deep brain stimulation?Deep brain stimulation (DBS) is a procedure used totreat a variety of neurological diseases, including move-ment disorders such as dystonia. A pulse generator—essentially a brain pacemaker—is surgically implantedand delivers electrical stimulation to the areas of thebrain associated with dystonia. The pulse generator isimplanted into the chest or abdomen, and extensionwires connect the pulse generator to leads deep in thebrain. The stimulation is adjusted by remote control toachieve the best settings for each individual patient. Theprocedure is completed in several phases: implanting theleads in the brain, implanting the pulse generator in thechest, activating the pulse generator, and programmingthe stimulation settings.

How does DBS treat dystonia?Although deep brain stimulation (DBS) has proven to be a safe and effective treatment for a variety of disorders, the exact mechanism of action is not fully

understood; doctors know it works, they just can’t exactly explain why. Dystonia symptoms result when excessive signaling from the brain causes involuntarymuscle contractions and movements. The stimulationdelivered to the brain by the DBS pulse generator suppresses these excessive signals, thereby lessening the dystonia symptoms.

How do I know if I am a candidate for DBS?Deep brain stimulation (DBS) is not appropriate for all individuals with dystonia, and not all patients whoundergo the procedure will experience the same results.The medical community is still learning which patientsare the best candidates. Based on the research to date,individuals who have isolated (primary) dystonia may be likely—but are not guaranteed—to have the best outcomes from DBS, and perhaps as well those who are younger, test positive for the DYT1 dystonia genemutation, and are treated relatively early on in the dystonia progression. Much of this remains under

Deep brain stimulation (DBS) is a therapy

that is being used to treat a greater number

and variety of dystonias than ever before.

The techniques and technology of DBS are

constantly evolving as dystonia research

progresses. The movement disorders field

now has a decade of experience—and data

in the medical literature—about the long-term

safety and efficacy of DBS. This article

addresses common questions about this

treatment for dystonia.

19

debate. Individuals with severe cervical dystonia or dystonia acquired by drug exposure (tardive dystonia)may also be good candidates for DBS. Individuals withother forms of acquired (secondary) dystonia should beevaluated on a case by case basis. There are also promisingdata on the use of DBS to treat myoclonus dystonia.

Ultimately, DBS may be considered if medications and other treatments have failed, and if the symptomsnegatively affect quality of life to the extent that the surgical risks are justified. The first step in the evaluationprocess for DBS is to meet with a DBS-trained move-ment disorders neurologist. For a list of suggested questions to ask your doctor when discussing whetheryou may be a candidate for DBS, visit www.dystonia-foundation.org/dialogue

Is DBS safe? What are the risks?Overall serious side effects from deep brain stimulation(DBS) are rare, but no invasive surgical procedure iswithout risk. The main risk in DBS is bleeding in thebrain during the lead implantation, resulting in stroke.However, approximately 99% of patients do not havesignificant bleeding. Infection occurs in approximately5% of patients. Infection can be serious and warrant theremoval of the hardware. (If this happens, it may be possible to re-implant the hardware once the infection is treated.) Hardware issues may occur, for example wiredisconnection or battery failure. Most complicationsthat occur can be resolved without removing the hardware.

What are the benefits?One of the challenges of treating dystonia with deepbrain stimulation (DBS) is that it is difficult to predictwhich patients will benefit and to what degree. Based onrecent studies and reviews, improvements of 50-60% aregenerally observed overall, with some patients experiencinga 90% reduction in symptoms. Even an improvement rating of 30%, however, can have a significant impact ona person’s ability to function. It is not uncommon forDBS patients to rate their improvement higher than thenumerical result of the rating scales that doctors use. Despite significant benefit for many patients, DBS is not a cure.

How do I select a medical center that offers DBS for dystonia?Deep brain stimulation (DBS) for dystonia is a highlyspecialized procedure that should be performed by amultidisciplinary team with extensive training and experience. Each medical center that offers DBS willhave its own methods and procedures. The first step in the evaluation process for DBS is to meet with aDBS-trained movement disorders neurologist. TheDMRF can help you locate centers in your region.

Is DBS covered by insurance?Deep brain stimulation (DBS) for dystonia received a special category of approval by the Food and Drug Administration (FDA), called a “Humanitarian DeviceExemption." In most cases, insurers cover the procedure.Some insurers may initially deny coverage but approveafter an appeal. Your doctor’s office and health insuranceprovider—including Medicare and Medicaid—can clarifyyour level of coverage, coding, and payment policies.

What long-term maintenance is involved in DBS?Having deep brain stimulation (DBS) is a life-long com-mitment that requires ongoing management. Maintenanceincludes battery changes (which consist of out-patientsurgery) and may include ongoing programming adjust-ments. Hardware problems may occur. Rarely, individualsdevelop new movement disorder symptoms associated withthe stimulation. Individuals with DBS must be mindfulof situations that can interfere with the functioning ofthe DBS hardware, such as exposure to magnetic fields—this includes certain medical MRI imaging (magneticresonance imaging). There may be restrictions in termsof certain activities, such as extreme or contact sportsthat could damage the implanted hardware.

How can I learn more about DBS for dystonia?For more information on DBS for dystonia, ask yourmovement disorder specialist and visit www.dystonia-foundation.org/treatment. If you are considering DBS,or have had the procedure and wish to connect with otherswho have also undergone the procedure, join the DBS forDystonia online bulletin board: http://health.groups.yahoo.com/group/DBSforDystonia/

20 WINTER 2 0 1 3

Central Jersey Dystonia Support & Action Group Leaders:Janice & Len Nachbar andJoanna ManusovJanice and Len Nachbar started theCentral Jersey Dystonia SupportGroup in 2000, inspired by the diagnosis of their daughter, JoannaManusov, several years earlier at the age of 21.

“One of the things we made clearfrom the beginning,” explains Len,“was that we wanted the supportgroup to be a positive experience. It wasn’t going to be a pity party.We wanted to create a space where

people could get information, getsupport, and we were going to keepit positive.”

The Central Jersey Dystonia SupportGroup quickly became one of theDMRF’s most ambitious and ac-complished groups. The supportgroup meets four times a year andhas a mailing list of about 85 people.The Nachbar/Manusov family became passionate about promotingawareness and worked with local newmedia, among business contacts,and government figures to makedystonia as visible as possible. Theyare seasoned fundraisers, having organized a variety of very successfulevents, and were the original creatorsof the Dogs4Dystonia Dog Walk,which has been replicated in commu-nities around the country. They haveorganized seven “Dogs4Dystonia…A Dog Walk and So much More”events, raising tens of thousands of dollars in support of dystonia research and DMRF programs.

Joanna plays a central role in theDog Walk planning by networkingyear round online and coordinatingpartners and vendors—all one painfulkey stroke at a time. Joanna is affected by generalized dystonia

that makes it extremely difficult to move, be mobile, or speak. Sherelies on a computer or keyboarddevice to communicate. “Joannamay not appear to be a ‘powerful’person, but she is very powerful,”beams Janice.

“I’m selfish,” says Len. “Everything Ido is trying to improve my daughter’slife and the lives of our friends. It’s a good kind of selfish. And it’s gratifying to help people. We’vemade some very good friends.”

“I find it very empowering,” addsJanice. “There is only so much I can do to fight Joanna’s dystoniamedically. You find the best doctorsand go down as many treatment pathsas you can, and sometimes the pathsrun out. So at least I am doingsomething. It makes me feel like I’m doing my share.”

Despite the Central Jersey SupportGroup’s level of sophistication interms of organization and diversity of activities, Janice stresses the im-portance of simple acts: “Just keep talking about dystonia,” she advises,“Keep saying the word out loud. Say the word ‘dystonia’ to as manypeople as you can.”

Janice and Len Nachbar and daughterJoanna are longtime DMRF supportersand advocates.

Meet Our Volunteer Leaders Support Group Leaders & Online Moderators are Lifelines to the Dystonia Community

While the DMRF continues to pursue research advancements toward improved treatments and a cure,

we also recognize that affected individuals and families need support now. The DMRF partners with

volunteers across the country to organize support groups and online support forums to help members

of the dystonia community connect with one another and access information. In this article you’ll meet

just a few of these special volunteers.

DYSTONIA D IALOGUE 21

Phoenix & Prescott, Arizona Dystonia Support Groups Leaders:Virginia & Bob SpencerBob Spencer has lived with dystoniasince 1986. He is affected by seg-mental dystonia affecting his neckand shoulder, to the extent that hewas medically discharged as a U.S.Navy Chief Hospital Corpsman. Hewears a customized Taylor-Knightbrace with a head extension for theanterocolis which forces his chin downtoward his chest. Bob was diagnosedwith spasmodic dysphonia in the1990s, but the symptoms have sincesubsided after two and a half years of intense speech therapy.

“People often ask how we have beenable to keep our positive outlook onlife since Bob was diagnosed withdystonia,” says Bob’s wife, Virginia.“Our answer is that we choose thejoy of our faith over despondency.We have been married for 42 years,and we strive to encourage eachother every day.”

Bob was inspired to attend his firstdystonia support group after attendinga DMRF symposium in 1999. Afterthe support group disbanded, he andVirginia established a dystonia sup-port group in 2009 while residingnear Monterey Bay, California. Whenthey relocated to Prescott, Arizonain 2011, they quickly got to work on establishing a support group in Phoenix, the nearest major metropolitan area.

The couple soon realized that the needsof the local dystonia communitywere more than a single support groupcould accommodate. So they didn’tstop at starting one support groupin Arizona: they currently facilitatetwo dystonia groups–one in Phoenixand another 100 miles away inPrescott that began earlier this year.

Meetings are held monthly in Prescott,and every other month in Phoenix.“We hope our members find a sense ofwell-being and acceptance,” explainsBob, “and a place to learn how to copewith their dystonia. It’s rewarding tosee people connect with someone whoknows what they are going through.”

Bob recounted a recent example in which a woman who attended ameeting only reluctantly learned aboutbotulinum neurotoxin injectionsthrough the support group. Shebegan treatment, and she and herhusband are now loyal supporters.“We know there are so many morepeople out there who could benefitfrom attending a meeting, if theyjust knew about it or made the effort to come. We provide a safeplace for people to share how theyreally feel about having dystonia.”

Support4Parents of Childrenwith Dystonia Moderators:Carol-Ann Peralta & Dena SherryIn response to feedback from thecommunity, one of the first onlineFacebook groups the DMRF createdwas Support4Parents of Childrenwith Dystonia, a group exclusivelyfor parents of affected children. Ayear and a half later, with nearly 200members, this is one of the DMRF’smost active online groups. Parentsfrom across the country and beyondshare experiences, seek feedback,and support one another daily. “I remember, all too well, the feelingsof being lost, overwhelmed, alone,”says Carol-Ann Peralta of New York,who serves as one of the groups co-moderators. “I am so happy this sitehas been created and am more thanhappy to share with anyone whowants to learn from mine and Allison's experiences.”

Carol-Ann was serendipitously diagnosed with DYT1 generalizeddystonia during the process of seekinga diagnosis for her daughter, Allison,who is also affected by this particulartype. Allison had deep brain stimu-lation (DBS) surgery at age 7, witha revision at age 9. Allison is now 15.

Continued on page 22

Bob and Virginia Spencer go above-and-beyond by facilitating two dystonia support groups.

Left: Carol-Ann Peralta shares a dystonia diagnosis with her daughterAllison. Right: Dena Sherry is activewith the DMRF in honor of herdaughter, Jana.

22 WINTER 2 0 1 3

Brain donation is a precious gift that anyone can give the dystoniacommunity. Registering as abrain donor costs nothing financially but provides dedicatedresearchers with important cluesin their quest to better understand

this complex disorder. By registeringas a brain donor, you are making an

invaluable contribution to dystonia research that willbring us closer to a cure.

The brain recovery process does not interfere with funeral or memorial services or affect the outward appearance of the donor. We encourage dystonia-affected individuals as well as family members to consider becoming brain donors because researchers are in need of brain tissue from both. You must residewithin the United States to participate. Donors maywithdraw from the program at any time.

The DMRF partners with the Harvard Brain Tissue Resource Center (HBTRC) at McLean Hospital in Belmont, Massachusetts. You can learn more about theprogram and begin the simple registration process athttp://www.dystonia-foundation.org/brain. Or you may request information by mail by contacting Martha Murphy, Brain Bank Liaison, at [email protected] or calling 800-377-3978. Martha isavailable to answer any questions you may have aboutthe brain donation program and registration process.

Help Researchers Find a Cure:Register as a Brain Donor Today

Continued from page 21Carol-Ann also underwent DBS, making her a veryunique resource for other parents. “I am blessed that we had wonderful doctors who helped us through somedifficult times,” she explains, “but they provided us witha wealth of information. They were the ones who put usin contact with DMRF where the learning continues.”

Carol-Ann is joined by fellow moderator Dena Sherry,who resides in California and whose 23-year-old daughter, Jana, is diagnosed with dystonia and cerebralpalsy. Jana has also undergone DBS. “Being involvedwith the DMRF has brought families together throughsymposiums and other programs, and the online groupis wonderful for giving parents a safe space to connectwith one another any time they need it,” Dena shares.“These families are going through so much.”

The Peralta and Sherry families are both loyal attendeesof DMRF events and supporters of the Foundation, participating regularly in fundraisers and awareness efforts. Earlier this year, Dena ran the Napa ValleyMarathon in support of the DMRF and spoke at Dystonia Advocacy Day.

Parents of children with all manner of dystonia diagnoses are welcome to join the Support4Parents of Children with Dystonia on Facebook.

Contact information for all DMRF support groups and online forums can be found at www.dystonia-foundation.org

Show Your Support with DMRF T-ShirtThe DMRF will have our first-ever team in the ING New York City Marathon

on Sunday, November 3, 2013. You can support our runners as they go the

“Dystance for Dystonia” by ordering a DMRF-NYC marathon t-shirt for $10.

Proceeds support the efforts of our runners, who each are committed to raising

$2,500 to support the cause. Shop at http://ww.dystonia-foundation.org

DYSTONIA D IALOGUE 23

PERSONAL PROFILEMeet Susan Zimmerman Susan Zimmerman began experiencing symptoms of generalized dystonia

in her mid-20s. She resides in Oregon, and is currently being evaluated for

deep brain stimulation (DBS).

How did your symptoms begin?It started in 1986-87, withstiffness and rigidity in myleft arm. Within months,

I started having movements, postures, tremors. I was initially misdiagnosed with conversion disorder andspent several years in and out of psychiatric facilities, but was eventually correctly diagnosed with generalizedtorsion dystonia. It affected my upper extremities, shoulder, left leg and foot; when my head started to pull down, they also diagnosed cervical dystonia. Icouldn’t lie in bed; I couldn’t sit in a chair. I couldn’t eat. I lost 70 pounds in two months. The doctors said I should go home and get my affairs in order. They calculated I had about two months to live. They sent me home on all kinds of meds, but I wanted to give mybrain the opportunity to heal itself. After 18 months offthe medications, I started to improve. I had to re-learnhow to walk. I went from using a wheelchair, to usingtwo canes, then to only one cane. I was able to return toschool finishing all the coursework for a Master’s degreein Counseling, until I was exposed to a number of drugsby paramedics, and my body started to draw up again. I had to withdraw from the program.

How does dystonia affect you today?Dystonia is a ride! Just when I think I know what I amdealing with, it changes on me. Every time I’ve needed asurgery—appendectomy, surgery for kidney stones, gall-bladder surgery in February—it accelerates the dystonia.Botulinum toxin seems to be less effective so I’ve addedphysical therapy, massage, a TENS unit [transcutaneouselectrical nerve stimulation] for my back spasms. And Itake baclofen and levodopa. Altogether it’s not enoughso I’m dealing with more secondary effects: pain, sleepproblems, difficulty chewing, swallowing, speaking, andchallenges with dental care and hygiene.

How do you cope?I’ve had to learn to be patient, to take one day at a time.I “live in the pause.” That’s why I call my blog “Betweenthe Twitches.” I live in the space in between the twitches.I do what I can, but I know my limits. I stopped driving.I gave my brother-in-law my table saw. I have to be reasonable. I won’t drive a motorcycle, but I can ride a horse! I don’t have a lot of “give up” in me.

What have you learned from living with dystonia?There is a difference between pain and suffering. I’m ina lot of pain, but I’ve learned how to live with it. Pain iswhat I feel 24/7. Suffering is what I create when I makea judgment about my pain. That is a choice. I have pain,but I try to keep suffering out of the equation.

Please talk about your beadwork.I find it hysterically funny that I’m able to do bead work.I can’t hold my head still, can’t hold my body still; myhand is in a brace to keep it from folding up. But, I canuse a toothpick to place a bead in a little glue on a canvas,twitch, then place another bead. It makes me laugh thatsomeone with a movement disorder can do this. Withthe tiniest of objects I make a bold statement: “Powerisn’t in the twitch, it’s in the pauses between them!”

Any advice for others with dystonia?Be your own advocate. Health care professionals have training and degrees, but they have never lived aminute in your body. You are the genius when it comesto knowing your body. Be authentic and genuine withyour grief. You need to honestly accept what has happenedto you before you can heal. I never refer to dystonia as “my” dystonia. Dystonia is not me; dystonia is something that happened to me.

Learn more about Susan and view samples of her beadwork athttp://betweenthetwitches.com/

Despite the spasms andtremors of dystonia, SueZimmerman creates intricate bead mosaics.

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